Linked Data
ClinVar Variation Id:
881350
ClinVar RCV Id:
RCV001110301
dbSNP Id:
rs765380398
gnomAD v2:
12-5153915-G-A
gnomAD v3:
12-5044749-G-A
gnomAD v4:
12-5044749-G-A
COSMIC:
COSM940450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044749G>A , CM000674.2:g.5044749G>A | GRCh38 |
| NC_000012.11:g.5153915G>A , CM000674.1:g.5153915G>A | GRCh37 |
| NC_000012.10:g.5024176G>A | NCBI36 |
| NG_012198.1:g.5831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.602G>A MANE Select | ENSP00000252321.3:p.Arg201His | |
| ENST00000252321.4:c.602G>A | ENSP00000252321.3:p.Arg201His | |
| NM_002234.3:c.602G>A | NP_002225.2:p.Arg201His | |
| NM_002234.4:c.602G>A MANE Select | NP_002225.2:p.Arg201His |